Results 201 to 210 of about 1,664,726 (300)

SPG4 Hereditary Spastic Paraplegia: From Etiology to Therapy

Movement Disorders, EarlyView.
Abstract Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group of heritable neurodegenerative disorders resulting from mutations in a wide variety of genes. HSP locomotor symptoms include lower limb weakness and spasticity that arise from progressive degeneration of corticospinal axons projecting from the motor cortex to the distal ...
Emanuela Piermarini, Peter W. Baas
wiley   +1 more source

Safety Assessment of <i>Antrodia cinnamomea</i> Cultured in Red Quinoa and Barley: Genotoxicity in Mice and 90-Day Feeding Toxicity in Rats. [PDF]

Foods
Dai YZ, Lee CL, Lin JY, Tzeng YM, Liao JW.   +4 more
europepmc   +1 more source

Beyond BMI: Genome‐Wide Associations of Visceral Fat, Fat Mass, and Fat‐Free Mass in Eastern Asian Populations

Obesity, EarlyView.
ABSTRACT Objective BMI is widely used to define obesity and may not capture heterogeneity in body fat distribution. Genetic studies of obesity have largely focused on BMI but not visceral fat and fat‐free mass, which is particularly limited in East Asian populations.
Hsin‐Ming Lu, Shun‐Jen Chang, Kuei‐Hau Luo, Yun‐Shiuan Chuang, Fu‐Wen Liang, Hung‐Yi Chuang   +5 more
wiley   +1 more source

Recurrent Hodgkin's Lymphoma Detected Using Abnormal NIPT in Pregnancy: A Case Report and Literature Review. [PDF]

Diagnostics (Basel)
Szlek C, Punukollu P, Grater L, Ware D, Devoe L, Schlabritz-Lutsevich N, David H, Toussaint W, Maher J.   +8 more
europepmc   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Real-World Diagnostic Yield and Longitudinal Dynamics of Fluorescence In Situ Hybridization in Hematologic Malignancies: A Five-Year Retrospective Analysis of 1357 Patient Samples. [PDF]

Genes (Basel)
Fumo R, Scala K, Gaeta S, D'Ardia A, Infante T, Ciancia G, Caputo A, Rosati A, Serio B, D'Antonio A, Zeppa P, Chetta M.   +11 more
europepmc   +1 more source

Neuroimaging Findings and Risk Factors for Brain Injury in Foetuses Treated for Anaemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Characterize neuroimaging findings in foetuses with anaemia and identify associated risk factors. Methods Retrospective cohort study of pregnancies with foetal anaemia (defined as haemoglobin > 2 standard deviations below the gestational age mean) confirmed by foetal blood sampling (FBS) and treated with intrauterine transfusion (IUT)
Laurence Sophie Carmant, Carlos Robles, Seungwoo Lee, Prakesh S. Shah, Greg Ryan, Elka Miller, Shiri Shinar   +6 more
wiley   +1 more source

Safety Evaluation of Sumizyme PEG: A 90-Day Repeated-Dose Oral Toxicity Study and Comprehensive Genotoxicity Assessment of an Endo-1,3(4)-β-glucanase from <i>Talaromyces versatilis</i> PF8. [PDF]

Toxics
Dietrich A, Meinl J, Park L, Fronda D, Kardjadj M.   +4 more
europepmc   +1 more source

Parental Decision‐Making and Pregnancy Outcomes After Increased First‐Trimester Nuchal Translucency: A 12‐Year Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe diagnostic trajectories and parental decision‐making following increased first‐trimester nuchal translucency (NT), according to NT thickness. Method This 12‐year retrospective cohort study was conducted at a French tertiary Prenatal Diagnosis and Fetal Medicine Center and included 316 singleton pregnancies with first ...
Benjamin Birene, Jean‐Paul Bory, Eloi Dondeyne, Anne Charbonneau, Clémence Jacquin, Emilie Landais, Mohamed Dakin, Olivier Graesslin   +7 more
wiley   +1 more source

Impact of Maternal Body Mass Index (BMI) on the Performance of Non-Invasive Prenatal Testing (NIPT). [PDF]

Prenat Diagn
Valovicova K, Polak M, Ottema S, Huijbregts G, Joosten M, Diderich KEM, Drost M, Heil S, Galjaard S, Van Opstal D, Srebniak MI.   +10 more
europepmc   +1 more source